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Article

The use of orthologous sequences to predict the impact of amino acid substitutions on protein function.

PLoS genetics - 27 May 2010

Marini Nicholas J, Thomas Paul D, Rine Jasper

Abstract excerpt

Computational predictions of the functional impact of genetic variation play a critical role in human genetics research. For nonsynonymous coding variants, most prediction algorithms make use of patterns of amino acid substitutions observed among homologous proteins at a given site. In particular, substitutions observed in orthologous proteins from other species are often assumed to be tolerated in the human...

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Alleles
Amino Acid Substitution
MTHFR gene
Genetic Complementation Test
Methylenetetrahydrofolate Reductase (NADPH2)

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PMID: 20523748
DOI: 10.1371/journal.pgen.1000968
PMCID: PMC2877731

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MTHFR

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